Fever, and Renal agenesis

Diseases related with Fever and Renal agenesis

In the following list you will find some of the most common rare diseases related to Fever and Renal agenesis that can help you solving undiagnosed cases.

Top matches:

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Other less relevant matches:

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Top 5 symptoms//phenotypes associated to Fever and Renal agenesis

Symptoms // Phenotype % cases
Cleft palate Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Renal agenesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect

Common Symptoms - More than 50% cases

Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases

Toe syndactyly

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the kidney

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Hip dislocation Specific learning disability Abnormality of the urinary system Renal dysplasia Choanal atresia Generalized hypotonia Intrauterine growth retardation Nystagmus Severe short stature Intellectual disability, severe Ventricular septal defect Short neck Hypoplasia of the corpus callosum Hydrocephalus Oligohydramnios Retrognathia Recurrent infections Polydactyly Syndactyly Hydronephrosis Ptosis Anemia Immunodeficiency Clinodactyly of the 5th finger Delayed skeletal maturation Umbilical hernia Unilateral renal agenesis Hypothyroidism Abnormality of the skeletal system Astigmatism Brachydactyly Abnormality of the pinna Patent ductus arteriosus Hypospadias Blepharophimosis Thrombocytopenia Muscular hypotonia Micropenis Abnormality of cardiovascular system morphology Behavioral abnormality Small for gestational age Pulmonary hypoplasia Proptosis Hernia Coarctation of aorta Hypertonia Renal hypoplasia Strabismus Tetralogy of Fallot Bulbous nose Conductive hearing impairment Flexion contracture Microphthalmia Hydroureter Hyperkeratosis Duodenal stenosis Cerebellar hypoplasia Glaucoma Anal atresia Renal hypoplasia/aplasia Perimembranous ventricular septal defect Submucous cleft hard palate Microtia Telecanthus Anteverted nares Epicanthus Cataract Clinodactyly Neoplasm Postaxial polydactyly Frontal bossing Cleft lip Spina bifida Delayed speech and language development Cognitive impairment Ataxia Agenesis of corpus callosum 2-3 toe syndactyly Micromelia Cleft upper lip Postnatal growth retardation Multicystic kidney dysplasia Low posterior hairline Vesicoureteral reflux Bicuspid aortic valve Abnormality of the genital system Alopecia Short thumb Aganglionic megacolon Bifid uvula Short palpebral fissure Malar flattening Preaxial polydactyly Pulmonic stenosis Ectrodactyly Meningocele Aggressive behavior Ventriculomegaly Wide nasal bridge Depressed nasal bridge Sensorineural hearing impairment Renal cyst Hyperactivity Feeding difficulties Psoriasiform dermatitis Respiratory distress

Rare Symptoms - Less than 30% cases

Nasal speech Vitiligo Gastroesophageal reflux Myelomeningocele Truncus arteriosus Autism Sleep disturbance Skeletal dysplasia Hypoglycemia Hearing abnormality Purpura Hypoparathyroidism Holoprosencephaly Bipolar affective disorder Autoimmune hemolytic anemia Posterior embryotoxon Autoimmune thrombocytopenia Premature birth Rheumatoid arthritis Autistic behavior Webbed neck Arnold-Chiari malformation Inflammation of the large intestine Schizophrenia Cholelithiasis Acne Abnormality of the hand Nail dysplasia Juvenile rheumatoid arthritis Dolichocephaly Platyspondyly Hypotrichosis Hyperhidrosis Congestive heart failure Myopia Headache Hypogonadism Upslanted palpebral fissure Dry skin Single transverse palmar crease Hypertrophic cardiomyopathy Finger syndactyly Facial asymmetry Corneal opacity Vertigo Hypopigmentation of the skin Sloping forehead Elbow flexion contracture Recurrent urinary tract infections Abnormal localization of kidney Abnormal vertebral morphology Abnormal renal morphology Abnormality of the upper urinary tract Thin eyebrow Bicornuate uterus Abnormal eyelid morphology Ectopic kidney Camptodactyly Respiratory tract infection Seborrheic dermatitis Vomiting Aplasia of the uterus Graves disease Interrupted aortic arch Oligodactyly Right aortic arch Impaired T cell function Retinal vascular tortuosity Long philtrum Conotruncal defect Aplasia of the thymus Arteria lusoria Kyphosis Right aortic arch with mirror image branching Spasticity Sacral meningocele Talipes equinovarus Narrow mouth Craniosynostosis Attention deficit hyperactivity disorder Downslanted palpebral fissures Polymicrogyria Iris coloboma High, narrow palate Optic atrophy Amblyopia Sclerocornea Hypertension Hypocalcemia Aplasia/Hypoplasia of the radius Limb undergrowth Absent speech Delayed eruption of teeth Triangular face Short metacarpal Postaxial hand polydactyly Hypoplasia of the maxilla Oral cleft Abnormality of the foot Short philtrum Hyperkalemia Dilatation Abnormality of the nervous system Abnormal eyelash morphology Low-set, posteriorly rotated ears Apnea Feeding difficulties in infancy Prominent nasal bridge Hypoplasia of dental enamel Highly arched eyebrow Dandy-Walker malformation Cerebellar vermis hypoplasia Cutis marmorata Aplasia/Hypoplasia of the corpus callosum Severe intrauterine growth retardation Small hand Bifid scrotum Oligodontia Microdontia Ectodermal dysplasia Sparse scalp hair Split hand Omphalocele Broad nasal tip Hypohidrosis Sparse and thin eyebrow Conjunctivitis Sparse eyelashes Hypoplasia of the frontal lobes Duplicated collecting system Hand polydactyly Keratitis Absent septum pellucidum Hypoplastic nipples Blepharitis Abnormality of the dentition Heat intolerance Thin upper lip vermilion Hypoplasia of the thymus Recurrent corneal erosions Short palm Short chin Abnormality of digit Obesity Hemolytic anemia Abnormality of dental enamel Long nose Amenorrhea Dementia Chorea Abnormal form of the vertebral bodies Autoimmunity Abnormality of the metacarpal bones Mental deterioration Abnormality of the ribs Photophobia Arthritis Recurrent respiratory infections Congenital diaphragmatic hernia Depressivity Peripheral demyelination Eczema Short femur Short metatarsal Primary amenorrhea Biparietal narrowing Self-injurious behavior Proximal placement of thumb Partial agenesis of the corpus callosum Pyloric stenosis Pachygyria Persistence of primary teeth Prolonged neonatal jaundice Short mandibular rami Severe photosensitivity Disproportionate short stature Abnormality of the metaphysis Opsoclonus Bowing of the long bones Fine hair Status epilepticus Osteomalacia Broad palm Hypsarrhythmia Prominent nose Facial capillary hemangioma Heterotopia Cortical gyral simplification Periodic hypokalemic paresis Knee flexion contracture Rickets Elbow dislocation Abnormality of the gallbladder Diabetes insipidus Septate vagina Sacral dimple Lissencephaly Absence seizures Multiple joint contractures Alveolar ridge overgrowth Prominent occiput Femoral bowing Muscle stiffness Bilateral single transverse palmar creases Sleep-wake cycle disturbance Toe clinodactyly Delayed eruption of permanent teeth Large hands Delayed myelination Ventricular tachycardia Abnormality of limbs Preauricular pit Slender long bone Tetraparesis Agenesis of permanent teeth Prolonged QT interval Periventricular gray matter heterotopia Palpitations High pitched voice Loss of consciousness Bidirectional ventricular ectopy Myotonia Syncope Hypokalemia Decreased body weight Short phalanx of finger Cerebral atrophy Growth abnormality Respiratory insufficiency Cardiac arrest Ventricular arrhythmia Prominent U wave Scapular winging Abnormal heart valve morphology Hyperthyroidism Thick vermilion border Tachycardia Elevated 7-dehydrocholesterol Muscle weakness Pain Arrhythmia Gait ataxia Prominent frontal sinuses Joint laxity Paralysis Periodic hyperkalemic paralysis Broad forehead Inability to walk Short foot Periodic paralysis Sparse hair Muscular hypotonia of the trunk Rigidity Osteopenia Dyspnea Respiratory failure Osteoporosis Scaphocephaly Antegonial notching of mandible Clinodactyly of the 5th toe Abnormality of the vertebral column Short humerus Hypertrichosis Downturned corners of mouth Tapered finger Microcornea Sepsis Otitis media High myopia Blue sclerae Long eyelashes Thick eyebrow Aspiration Low anterior hairline Increased body weight Spontaneous abortion Torticollis Widely spaced teeth Relative macrocephaly Hirsutism Thin vermilion border Incoordination Unilateral chest hypoplasia Paronychia Cerebral cortical hemiatrophy Hypoplasia of the bladder Scleritis Thin fingernail Abnormal pelvis bone morphology Ichthyosis follicularis Macrocephaly Synophrys Cardiomyopathy Pneumonia Prominent forehead Brachycephaly Mandibular prognathia Proteinuria Pallor Hypoplasia of the radius Deep philtrum Hyperconvex fingernails Hypertropia Phocomelia Supernumerary ribs Gastroparesis Absent hand Curly eyelashes Hypoplastic male external genitalia Esophageal stenosis Left-to-right shunt Short sternum Projectile vomiting Duplication of internal organs Malrotation of colon Otitis media with effusion Reduced renal corticomedullary differentiation Abnormality of the umbilicus Hypoplastic radial head Hand oligodactyly Peters anomaly Clubbing Hiatus hernia Tricuspid regurgitation Short middle phalanx of finger Opisthotonus Limited elbow extension Weak cry Dislocated radial head Poor appetite Aspiration pneumonia Panhypopituitarism Esophagitis Hypoplastic labia majora Abnormality of the gastrointestinal tract Optic nerve coloboma Thick upper lip vermilion Recurrent hypoglycemia Volvulus Episcleritis Abnormality of temperature regulation Hip contracture Shoulder flexion contracture Small anterior fontanelle Aplasia/hypoplasia of the femur Large iliac wings Abnormality of calcium-phosphate metabolism Loss of eyelashes Abnormality of the distal phalanx of finger Abnormality of the pubic bone Abnormality of the tragus Abnormally ossified vertebrae Bifid femur Bowed humerus Enlarged metaphyses Absent knee epiphyses Cleft vertebral arch Bifid first metacarpal Cerebral cortical atrophy Abnormality of the intervertebral disk Central hypothyroidism Developmental regression Hypoplastic ilia Epileptic spasms Arachnoid cyst Thickened nuchal skin fold Delayed epiphyseal ossification Abnormality of finger Flat acetabular roof Long foot Abnormal cortical gyration Long clavicles 11 pairs of ribs Agenesis of cerebellar vermis Profound global developmental delay Colpocephaly Broad distal phalanx of finger Tethered cord Aplastic clavicle Macrotia Erythema Abnormal nasolacrimal system morphology Follicular hyperkeratosis Congenital ichthyosiform erythroderma Atonic seizures Uveitis Parakeratosis Alopecia of scalp Absent eyelashes Corneal erosion Hypoplastic fingernail Mixed hearing impairment Olivopontocerebellar atrophy Alopecia totalis Oxycephaly Alopecia universalis Cheilitis Corneal scarring Subcortical cerebral atrophy Increased serum testosterone level Absent eyebrow Scarring Epidermal acanthosis Camptodactyly of finger Papule Nail dystrophy Talipes Ichthyosis Palmoplantar keratoderma Brain atrophy Abnormality of the hair Intestinal obstruction Abnormality of the nail Hemivertebrae Recurrent bacterial infections Opacification of the corneal stroma Plagiocephaly Urticaria Scaling skin Erythroderma Talipes calcaneovalgus Abnormality of nervous system morphology Hip subluxation Basal ganglia calcification Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Anal stenosis Axonal loss Abnormality of the ear Perineal fistula Myopathic facies Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Narrow palpebral fissure Hallucinations Open mouth Psychosis Underdeveloped nasal alae Dysmetria Congenital cataract Anxiety Cerebellar atrophy Vascular ring Congenital conductive hearing impairment Midline notch of upper alveolar ridge Parathyroid agenesis Abnormal cardiac septum morphology Abnormality of the liver Irritability Abnormality of the eye Carcinoma Pes planus Weight loss Diabetes mellitus Renal insufficiency Fatigue Hyperreflexia Hepatomegaly Visual impairment Type I truncus arteriosus Parathyroid hypoplasia Unilateral lung agenesis Femoral hernia Unilateral primary pulmonary dysgenesis Generalized tonic-clonic seizures Broad thumb Exotropia Tetany Anterior segment developmental abnormality Alcoholism Decreased circulating parathyroid hormone level Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Esophoria Accommodative esotropia Central Y-shaped metacarpal Y-shaped metacarpals Abnormality of skin pigmentation Sparse axillary hair Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Nasolacrimal duct obstruction Selective tooth agenesis Central diabetes insipidus Bladder diverticulum Sparse pubic hair Rectovaginal fistula Dysuria Generalized hypopigmentation Absence of Stensen duct Epiphora Carious teeth Hypodontia Growth hormone deficiency Thin skin Hypogonadotrophic hypogonadism Abnormality of the genitourinary system Hypopituitarism Anodontia Xerostomia Split foot Bilateral cleft lip Depressed nasal tip Blue irides Fair hair Transverse vaginal septum Slow-growing scalp hair Occipital meningocele Tibial bowing Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Hypothalamic hamartoma Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Foot polydactyly Hamartoma Abnormal retinal morphology Tremor Oculomotor apraxia Gait disturbance Long face Abnormal cerebellum morphology Esotropia Apraxia Finger clinodactyly Tachypnea Molar tooth sign on MRI Polycystic kidney dysplasia Trigonocephaly Radial deviation of finger Bilateral cryptorchidism Preaxial hand polydactyly Abnormality of neuronal migration Leukemia Bruising susceptibility Median cleft palate Gingival overgrowth Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Hammertoe Clitoral hypertrophy Hyponatremia Precocious puberty Poor suck Reduced number of teeth Optic nerve hypoplasia Scrotal hypoplasia Abnormal dermatoglyphics Hypercholesterolemia Hyperbilirubinemia Short toe Rhizomelia Overlapping toe Wide intermamillary distance Short nose Constipation Polyhydramnios Intellectual disability, moderate Wide mouth Intestinal malrotation Narrow forehead Dental crowding Ambiguous genitalia Hypoplasia of penis Decreased fetal movement Intellectual disability, profound Cutaneous photosensitivity Recurrent otitis media Metatarsus adductus Adrenal insufficiency Edema Bifid tongue Mesomelic short stature Broad alveolar ridges Gastroschisis Increased nuchal translucency Ectopic calcification Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hypocholesterolemia Aplasia/Hypoplasia affecting the eye Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Breech presentation Overlapping fingers Mesomelia Upper limb undergrowth Atrioventricular canal defect Increased number of teeth Ulnar deviation of finger Hypopigmentation of hair Epiphyseal stippling Abnormal lung lobation Self-mutilation Sex reversal Postaxial foot polydactyly Male pseudohermaphroditism Microglossia Severe failure to thrive Tracheal stenosis Excessive daytime somnolence Diarrhea Abnormality of the preputium Neutropenia Myelodysplasia Chromosome breakage External ear malformation Irregular hyperpigmentation Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Arteriovenous malformation Bone marrow hypocellularity Lymphoma Pancytopenia Telangiectasia Cafe-au-lait spot Insulin resistance Hypergonadotropic hypogonadism Horseshoe kidney Abnormality of vision Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Hypopigmented skin patches Reduced bone mineral density Abnormality of the ulna B-cell lymphoma Pyridoxine-responsive sideroblastic anemia Partial duplication of thumb phalanx Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Abnormality of the upper limb Abnormality of the hypothalamus-pituitary axis Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Abnormality of femur morphology Acute monocytic leukemia Abnormal aortic valve morphology Aplasia/Hypoplasia of the iris Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Meckel diverticulum Low-grade fever Dysplastic tricuspid valve


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